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Nancy E Braverman

Showing results (21-30 of 39) with videos related to

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Annals of Clinical and Translational Neurology|October 31, 2014
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defectsRosa Ferriero, Audrey Boutron, Michele Brivet, et al.
Journal of Inherited Metabolic Disease|September 25, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disordersPeter J Wegwerth, Amy L White, Stephanie D Stoway, et al.
Molecular Genetics and Metabolism|May 26, 2023
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclatureShruthi Mohan, Megan Mayers, Meredith Weaver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guidelineJerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
BMC Medical Genetics|August 17, 2012
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationSebastien Levesque, Charles Morin, Simon-Pierre Guay, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohortAlina Levtova, Paula J Waters, Daniela Buhas, et al.
Molecular Genetics and Metabolism|January 12, 2016
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesNancy E Braverman, Gerald V Raymond, William B Rizzo, et al.
Molecular Therapy. Methods & Clinical Development|October 27, 2021
AAV-mediated <i>PEX1</i> gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorderCatherine Argyriou, Anna Polosa, Ji Yun Song, et al.
Cell Death and Differentiation|July 22, 2017
Peroxisomes protect lymphoma cells from HDAC inhibitor-mediated apoptosisMichael S Dahabieh, ZongYi Ha, Erminia Di Pietro, et al.
Frontiers in Molecular Neuroscience|November 21, 2025
Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disordersUrsula Heins-Marroquin, Zlatan Hodzic, Beatriz Soares Carneiro da Silva, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Annals of Clinical and Translational Neurology|October 31, 2014
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defectsRosa Ferriero, Audrey Boutron, Michele Brivet, et al.
Journal of Inherited Metabolic Disease|September 25, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disordersPeter J Wegwerth, Amy L White, Stephanie D Stoway, et al.
Molecular Genetics and Metabolism|May 26, 2023
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclatureShruthi Mohan, Megan Mayers, Meredith Weaver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 4, 2014
Phenylalanine hydroxylase deficiency: diagnosis and management guidelineJerry Vockley, Hans C Andersson, Kevin M Antshel, et al.
BMC Medical Genetics|August 17, 2012
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationSebastien Levesque, Charles Morin, Simon-Pierre Guay, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohortAlina Levtova, Paula J Waters, Daniela Buhas, et al.
Molecular Genetics and Metabolism|January 12, 2016
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesNancy E Braverman, Gerald V Raymond, William B Rizzo, et al.
Molecular Therapy. Methods & Clinical Development|October 27, 2021
AAV-mediated <i>PEX1</i> gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorderCatherine Argyriou, Anna Polosa, Ji Yun Song, et al.
Cell Death and Differentiation|July 22, 2017
Peroxisomes protect lymphoma cells from HDAC inhibitor-mediated apoptosisMichael S Dahabieh, ZongYi Ha, Erminia Di Pietro, et al.
Frontiers in Molecular Neuroscience|November 21, 2025
Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disordersUrsula Heins-Marroquin, Zlatan Hodzic, Beatriz Soares Carneiro da Silva, et al.
Pageof 4